A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730843



Internal ID9965160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141178591..141214799hg38UCSC Ensembl
Outerchr5:140558172..140594371hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3836209
hg1936200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv958e201
Supporting Variantsessv6759009, essv6940373, essv6693997, essv6793554, essv6683873, essv6878491, essv6903590, essv6844775, essv6824743, essv6907364, essv6736846, essv6830035, essv6715359, essv6751459, essv6719270, essv6798684, essv6814184, essv6893359, essv6774471, essv6743011, essv6872602, essv6837278, essv6727276, essv6730733, essv6860624, essv6680253, essv6914947, essv6754390, essv6837279, essv6778028, essv6886892, essv6890061, essv6886753, essv6794502, essv6726985, essv6854199, essv6951721, essv6926647, essv6723084, essv6930300, essv6808278, essv6667459, essv6963454, essv6805284, essv6956735, essv6947661, essv6938842, essv6702576, essv6911163, essv6786233, essv6833636, essv6759889, essv6884083, essv6822309, essv6934537, essv6860625, essv6875558, essv6918590, essv6896647, essv6865396, essv6899567, essv6922902, essv6802446, essv6697816, essv6690285, essv6826233, essv6848875, essv6824732, essv6818007, essv6841089, essv6854210, essv6734238, essv6774470, essv6890062, essv6969203, essv6745822, essv6739835
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM038, SSM097, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM088, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM096, SSM026, SSM089, SSM017, SSM019, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM098, SSM049, SSM030, SSM012
Known GenesPCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB16, PCDHB8, PCDHB9
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2730843
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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